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Integrated GelMA and liposome composite hydrogel with effective coupling of angiogenesis and osteogenesis for promoting bone regeneration.
Int J Biol Macromol
January 2025
Department of Orthopedic Surgery, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215000, PR China. Electronic address:
In clinical scenarios, bone defects stemming from trauma, infections, degenerative diseases, or hereditary conditions necessitate considerable bone grafts. Researchers ardently focus on creating diverse biomaterials to expedite and enhance these intricate restorative processes. These biomaterials play a pivotal role in aiding osteogenesis and angiogenesis factors for reconstructing stable, fully developed bone tissue.
View Article and Find Full Text PDFN-glycosylation in the SERPIN domain of C1-Esterase Inhibitor in hereditary angioedema.
JCI Insight
January 2025
Medicine, Washington University School of Medicine, St. Louis, United States of America.
Hereditary angioedema is an autosomal dominant disorder caused by defects in C1-esterase inhibitor (C1-INH), resulting in poorly controlled activation of the kallikrein-kinin system and bradykinin overproduction. C1-INH is a heavily glycosylated protein in the serine protease inhibitor (SERPIN) family, yet the role of these glycosylation sites remains unclear. To elucidate the functional impact of N-glycosylation in the SERPIN domain of C1-INH, we engineered four sets consisting of 26 variants at or near the N-linked sequon (NXS/T).
View Article and Find Full Text PDFGene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.
Circ Heart Fail
January 2025
Assistance Publique Hopitaux de Paris (APHP), Pitié-Salpêtrière Hospital, Institute of Cardiology and Institute for Cardiometabolism and Nutrition, Paris, France (A.H., M.L., P. Charron, E.G.).
Sclerosing bone dysplasias: a pictorial essay.
Radiol Bras
January 2025
Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil.
Sclerosing bone dysplasias encompass abnormalities in bone density, divided into hereditary and nonhereditary forms. Primarily diagnosed through radiography, they are often incidental findings. Among the hereditary forms, the following stand out: osteopetrosis, osteopoikilosis, multiple diaphyseal sclerosis (ribbing disease), osteopathia striata, and Camurati-Engelmann disease.
View Article and Find Full Text PDFGermline structural variant as the cause of Lynch Syndrome in a family from Ecuador.
NPJ Genom Med
January 2025
Gastroenterology Deparment, Hospital Clínic Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.
Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of hereditary CRC and it is caused by germline defects in the DNA-mismatch repair (MMR) pathway. It is of extreme importance for affected LS patients and their relatives to identify the germline causative alteration to provide intensified surveillance to those at risk and allow early diagnosis and cancer prevention.
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